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Bird TD | 25/04/2024Initial Posting: September 28, 1998; Last Revision: April 25, 2024. The purpose of this overview is to increase the awareness of clinicians regarding Charcot-Marie-Tooth (CMT) hereditary neuropathy, its causes, and its management. The followi[...]Article
Abrams CK | 25/04/2024Initial Posting: June 18, 1998; Last Revision: April 25, 2024. Clinical characteristics : GJB1 disorders are typically characterized by peripheral motor and sensory neuropathy with or without fixed CNS abnormalities and/or acute, self-limite[...]Article
Bird TD | 21/03/2024Initial Posting: September 17, 1999; Last Revision: March 21, 2024. Clinical characteristics. Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, an[...]Article
Thada PK ; Bhandari J ; Umapathi KK | 30/01/2024Last Update: January 30, 2024 [Previous update: May 29, 2023]Article
Wirth T ; Bonnet C ; Delvallée C ; Pellerin D ; Bogdan T ; Clément G ; Schalk A ; Chanson JB ; Fleury MC ; Piton A ; Calmels N ; Namer IJ ; Kremer S ; Brais B ; Tranchant C ; Renaud M ; Anheim M | 23/01/2024Article
Pugliese A ; Della Marina A ; de Paula Estephan E ; Zanoteli E ; Roos A ; Schara-Schmidt U ; Hentschel A ; Azuma Y ; Topf A ; Thompson R ; Polavarapu K ; Lochmuller H | 04/11/2023Article
Initial Posting: August 31, 2007; Last Revision: November 2, 2023. Clinical characteristics. Pompe disease is classified by age of onset, organ involvement, severity, and rate of progression. Infantile-onset Pompe disease (IOPD; indiv[...]Article
Cluse F ; Hermier M ; Demarquay G ; Rogemond V ; Mallaret M ; Svahn J ; Pégat A ; Honnorat J ; Bernard E | 22/08/2023Article
Last Update: August 22, 2023. [Previous version: 2020]Article
Last Update: August 14, 2023. [Published : May 9, 2022]Article
Article
Last Update: August 12, 2023. [Revious version February 15, 2022]Article
Leslie ND ; Saenz-Ayala S | 13/07/2023In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993 Initial Posting: May 28, 2009; Last Revision: July 13, 2023 (Previous Update: June 16, 2022) CLINICAL CHARACT[...]Article
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Uneoka S ; Kobayashi T ; Numata-Uematsu Y ; Oikawa Y ; Katata Y ; Okubo Y ; Abe Y ; Kikuchi A ; Takayama J ; Tamiya G ; Kure S ; Saito K ; Uematsu M | 12/06/2023Article
Article
Last Update: May 29, 2023 ( Published : June 24, 2020, Previous update : May 9, 2022)Article
Last Update: May 29, 2023 [Previous update: May 8, 2022]Article
Last Update: May 25, 2023. [Previous version: August 10, 2020]Article
Sangadala S ; Shore EM ; Xu M ; Bergwitz C ; Lozano-Calderon SA ; Lin AE ; Boden SD ; Kaplan FS | 23/05/2023Article
In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Initial Posting: March 30, 2023. CLINICAL CHARACTERISTICS: CHKB-related muscular dystrophy (CHKB-MD), r[...]Article
Di Feo MF ; Lillback V ; Jokela M ; McEntagart M ; Homfray T ; Giorgio E ; Casalis Cavalchini GC ; Brusco A ; Iascone M ; Spaccini L ; D'Oria P ; Savarese M ; Udd B | England | 28/03/2023